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Clinical and Radiologic Characteristics of Caudal Regression Syndrome in a 3-Year-Old Boy: Lessons from Overlooked Plain Radiographs

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Clinical and Radiologic Characteristics of Caudal Regression Syndrome in a 3-Year-Old Boy: Lessons from Overlooked Plain Radiographs Pediatr Gastroenterol Hepatol Nutr. 2021 Mar;24(2):238-243 https://doi.org/10.5223/pghn.2021.24.2.238 pISSN 2234-8646·eISSN 2234-8840 Letter to the Editor Clinical and Radiologic Characteristics of Caudal Regression Syndrome in a 3-Year-Old Boy: Lessons from Overlooked Plain Radiographs Seongyeon Kang ,1 Heewon Park ,2 and Jeana Hong 1,3 1Department of Pediatrics, Kangwon National University Hospital, Chuncheon, Korea 2Department of Rehabilitation, Kangwon National University School of Medicine, Chuncheon, Korea 3Department of Pediatrics, Kangwon National University School of Medicine, Chuncheon, Korea Received: Aug 13, 2020 ABSTRACT 1st Revised: Sep 20, 2020 2nd Revised: Oct 4, 2020 Accepted: Oct 5, 2020 Caudal regression syndrome (CRS) is a rare neural tube defect that affects the terminal spinal segment, manifesting as neurological deficits and structural anomalies in the lower body. We Correspondence to report a case of a 31-month-old boy presenting with constipation who had long been considered Jeana Hong to have functional constipation but was finally confirmed to have CRS. Small, flat buttocks with Department of Pediatrics, Kangwon National University Hospital, 156 Baengnyeong-ro, bilateral buttock dimples and a short intergluteal cleft were identified on close examination. Chuncheon 24289, Korea. Plain radiographs of the abdomen, retrospectively reviewed, revealed the absence of the distal E-mail: [email protected] sacrum and the coccyx. During the 5-year follow-up period, we could find his long-term clinical course showing bowel and bladder dysfunction without progressive neurologic deficits. We Copyright © 2021 by The Korean Society of Pediatric Gastroenterology, Hepatology and present this case to highlight the fact that a precise physical examination, along with a close Nutrition evaluation of plain radiographs encompassing the sacrum, is necessary with a strong suspicion This is an open-access article distributed of spinal dysraphism when confronting a child with chronic constipation despite the absence of under the terms of the Creative Commons neurologic deficits or gross structural anomalies. Attribution Non-Commercial License (https:// creativecommons.org/licenses/by-nc/4.0/) Keywords: Constipation; Sacrum; Neural tube defects; Congenital abnormalities; which permits unrestricted non-commercial Abdominal radiography use, distribution, and reproduction in any medium, provided the original work is properly cited. ORCID iDs INTRODUCTION Seongyeon Kang https://orcid.org/0000-0003-3763-646X Childhood constipation is a common symptom encountered by general pediatricians as well Heewon Park as pediatric gastroenterologists. More than 90% of children with constipation are diagnosed https://orcid.org/0000-0002-7434-6675 with functional constipation without identifying specific organic causes 1[ ]. Jeana Hong https://orcid.org/0000-0003-0332-7466 Caudal regression syndrome (CRS), also referred to as sacral agenesis syndrome, caudal Conflict of Interest dysplasia or caudal agenesis, is a rare congenital malformation caused by a developmental The authors have no financial conflicts of failure in neuralization during the early stages of gestation [2]. It is characterized by variable interest. levels of spinal agenesis, accompanied by caudal vertebral malformation and structural anomalies in the musculoskeletal, genitourinary, and gastrointestinal (GI) systems [3]. Most cases are diagnosed at birth or during a prenatal examination by noting an abnormal appearance in the pelvis and lower extremities of the newborn or fetus [4,5]. https://pghn.org 238 Caudal Regression Syndrome in a Toddler We describe a toddler with intractable constipation from infancy who we diagnosed with CRS and present his long-term clinical course. This case series was approved by the Institutional Review Board (IRB) of Kangwon National University Hospital (IRB No. 2020-05-013) and the requirement for informed consents was waived due to the retrospectively collected data. CASE REPORT A 31 month-old boy was referred to the pediatric GI department for evaluation of intractable constipation. He had difficulty defecating with a frequency of 2 bowel movements per week requiring intermittent enemas and laxatives from the time that he was 2 months of age. His mother reported that his symptom was difficult to manage, because even a small amount of laxative often caused diarrhea. He was born to a diabetic mother at the gestational age of 37 weeks with a birth weight of 2.65 kg. The mother stated that her blood glucose had been difficult to control with insulin since the early weeks of her pregnancy. At 11 days of age, he had a history of admission for hypocalcemic tetany without any identified underlying disease. He was diagnosed with a congenital hearing impairment through the newborn hearing screening test. He had also been hospitalized several times for febrile illnesses, such as influenza infection, bronchiolitis, and viral pneumonia. On examination, his height was 84 cm (10th–25th percentile), and his body weight was 12 kg (10th–25th percentile). He was active and had low-set ears wearing hearing aids. His abdomen was slightly distended, with hard stools noted on a digital rectal examination. In addition, we observed that he had small, flat buttocks with bilateral buttock dimples and a short intergluteal cleft (Fig. 1). He passed normal mental developmental milestones except for a delay in language development, and there were no motor deficits or gross deformities in his extremities. His mother reported that he showed urinary dribbling and a weak urine stream since infancy. When we reviewed the plain radiographs, including those taken during previous hospitalizations, no abnormal findings were initially recognized, except for an excessive amount of stool from the colon to the rectum (Fig. 2A-D). Under the suspicion of spinal Fig. 1. Posterior view of the pelvis of the patient in the standing position. He showed a short intergluteal cleft, flattened buttocks, bilateral buttock dimples, and small gluteal masses. https://pghn.org https://doi.org/10.5223/pghn.2021.24.2.238 239 Caudal Regression Syndrome in a Toddler RRT A B C D E F Fig. 2. Serial plain radiographs of the abdomen and sagittal magnetic resonance imaging of the spine. A retrospective review of abdominal X-rays performed during admission at the age of 10 days (A), 4 months (B), 10 months (C), and 31 months (D) demonstrated subtotal sacral agenesis (white arrowhead). Pelvic X-ray (E) after disimpaction revealed the absence of the distal sacrum and the coccyx. Magnetic resonance image of the spine (F) showed a club-shaped conus medullaris, which abruptly terminates at the level of T12-L1 (black arrow) and a thickened filum terminale (black arrowhead). It also demonstrated the absence of the distal sacrum and the coccyx. dysraphism, however, we performed another pelvic X-ray, after disimpaction with an enema, that finally revealed the absence of the distal sacrum and the coccyx (Fig. 2E). Magnetic resonance imaging (MRI) of the spine demonstrated an abrupt termination of the conus medullaris at the T12 to L1 level and a thickened filum terminale Fig.( 2F). A voiding cystourethrogram with contrast showed poor filling in the bladder, suggesting a neurogenic bladder. No other remarkable findings were identified through abdominal and kidney ultrasonography, echocardiography, barium enema, and brain MRI. After being diagnosed with CRS, he was followed up over a 5-year period in the department of Pediatric GI, Urology, Neurosurgery, Rehabilitation, and Otorhinolaryngology. He has been wearing diapers for his urinary incontinence and has continued to use laxatives or enemas whenever he has difficulty with bowel movements. He did not have other progressive neurological deficits that need other interventions, except for a mild delay in language and intellectual functioning. DISCUSSION We described the case of a boy with subtotal sacral agenesis, accompanied by bowel and bladder dysfunction, who was confirmed to have CRS. His only clinically significant problem, defecation difficulty, had long been considered functional constipation. His small and flat buttocks, which are characteristic features of sacral agenesis, and his urinary incontinence were difficult to detect during the neonatal-infant period when infants spend most of their time wearing diapers and lying down. https://pghn.org https://doi.org/10.5223/pghn.2021.24.2.238 240 Caudal Regression Syndrome in a Toddler Table 1. Clinical characteristics of cases with caudal regression syndrome published since 2000 Cases Year of Age at diagnosis Sex Maternal Symptoms at Combined anomalies Outcome report diabetes presentation Aslan et al. [4] 2001 22 weeks of GA M NR Prenatal diagnosis Absent lumbosacral vertebra, hypoplastic Termination of pelvis, missing ribs, flexion contractures of lower pregnancy extremities, club feet, ventricular septal defect Zaw and Stone [7] 2002 At birth F Yes Gross anomalies Absent lumbosacral vertebra below L4, hypoplastic Delivered at 33 weeks detected at birth low extremities of GA Singh et al. [6] 2005 2.5 years of age M No Gross anomalies Imperforated anus, lower limbs deformities, total Colostomy, detected at birth sacral agenesis, partial lumbar spinal agenesis, orchiopexy undescended left testis, absent left kidney Shah et al. [8] 2006 3 years of age F No Urinary and bowel Sacral agenesis (below S1), terminal cord syrinx, left- incontinence, sided sacral rib difficulties to walk Krenova et al. [9] 2010 22 weeks of
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